Background: A predictive genetic test for Huntington's disease can be used before any symptoms are apparent, but there is only sparse knowledge about the long-term consequences of a positive test result. Such knowledge is important in order to gain a deeper understanding of families' experiences.
Objectives: The aim of the study was to describe a young couple's long-term experiences and the consequences of a predictive test for Huntington's disease.
Research Design: A descriptive case study design was used with a longitudinal narrative life history approach.
Participants And Research Context: The study was based on 18 interviews with a young couple, covering a period of 2.5 years; starting 6 months after the disclosure of the test results showing the woman to be a carrier of the gene causing Huntington's disease.
Ethical Considerations: Even though the study was extremely sensitive, where potential harm constantly had to be balanced against the benefits, the couple had a strong wish to contribute to increased knowledge about people in their situation. The study was approved by the ethics committee.
Findings: The results show that the long-term consequences were devastating for the family. This 3-year period was characterized by anxiety, repeated suicide attempts, financial difficulties and eventually divorce.
Discussion: By offering a predictive test, the healthcare system has an ethical and moral responsibility. Once the test result is disclosed, the individual and the family cannot live without the knowledge it brings. Support is needed in a long-term perspective and should involve counselling concerning the families' everyday life involving important decision-making, reorientation towards a new outlook of the future and the meaning of life.
Conclusion: As health professionals, our ethical and moral responsibility thus embraces not only the phase in direct connection to the actual genetic test but also a commitment to provide support to help the family deal with the long-term consequences of the test.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1177/0969733015576356 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
MutualDTA: An Interpretable Drug-Target Affinity Prediction Model Leveraging Pretrained Models and Mutual Attention.
J Chem Inf Model
January 2025
School of Information Science & Engineering, Lanzhou University, Lanzhou 730000, China.
Efficient and accurate drug-target affinity (DTA) prediction can significantly accelerate the drug development process. Recently, deep learning models have been widely applied to DTA prediction and have achieved notable success. However, existing methods often encounter several common issues: first, the data representations lack sufficient information; second, the extracted features are not comprehensive; and third, most methods lack interpretability when modeling drug-target binding.
View Article and Find Full Text PDFDevelopment and optimization of raloxifene hydrochloride loaded lipid nanocapsule based hydrogel for transdermal delivery.
Ther Deliv
January 2025
Institute of Pharmaceutical Research, GLA University, Mathura, India.
Aim: Development and optimization of raloxifene hydrochloride loaded lipid nanocapsule hydrogel for transdermal delivery.
Method: A 3 Box-Behnken Design and numerical optimization was performed to obtain the optimized formulation. Subsequently, the optimized raloxifene hydrochloride loaded lipid nanocapsule was developed using phase inversion temperature and characterized for physicochemical properties.
Understanding the cost-utility of implementing HIV self-testing with digital-based supports.
Front Public Health
January 2025
School of Epidemiology and Public Health, University of Ottawa, Ottawa, ON, Canada.
Introduction: HIV self-testing (HIVST) is an innovative strategy that has been shown to increase uptake of HIV testing compared to conventional facility-based testing. HIVST implementation with digital-based supports may help facilitate testing accessibility and linkage to care after a reactive self-test. Economic evidence around community-based implementation of HIVST is growing; however, economic evidence around digital-based HIVST approaches remains limited.
View Article and Find Full Text PDFLarge Language Models Outperform Traditional Natural Language Processing Methods in Extracting Patient-Reported Outcomes in Inflammatory Bowel Disease.
Gastro Hep Adv
October 2024
Bakar Computational Health Sciences Institute, University of California, San Francisco, San Francisco, California.
Background And Aims: Patient-reported outcomes (PROs) are vital in assessing disease activity and treatment outcomes in inflammatory bowel disease (IBD). However, manual extraction of these PROs from the free-text of clinical notes is burdensome. We aimed to improve data curation from free-text information in the electronic health record, making it more available for research and quality improvement.
View Article and Find Full Text PDFCausal association between matrix metalloproteinases and diabetic neuropathy: a two-sample Mendelian randomization study.
Front Endocrinol (Lausanne)
January 2025
School of Public Health, Xinjiang Medical University, Urumqi, Xinjiang, China.
Objective: Diabetic neuropathy (DN), a common and debilitating complication of diabetes, significantly impairs the quality of life of affected individuals. While multiple studies have indicated changes in the expression of specific matrix metalloproteinases (MMPs) in patients with DN, and basic research has reported the impact of MMPs on DN, there is a lack of systematic research and the causal relationship remains unclear. The objective of this research is to investigate the casual relationship between MMPs and DN through two-sample Mendelian randomization (MR).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!